ClinVar Miner

Submissions for variant NM_013352.4(DSE):c.2005A>G (p.Ile669Val)

gnomAD frequency: 0.00009  dbSNP: rs145999978
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651850 SCV000773706 uncertain significance Ehlers-Danlos syndrome, musculocontractural type 2 2022-05-09 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 669 of the DSE protein (p.Ile669Val). This variant is present in population databases (rs145999978, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with DSE-related conditions. ClinVar contains an entry for this variant (Variation ID: 541546). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV001550862 SCV001771259 uncertain significance not provided 2021-11-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant does not alter protein structure/function

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